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Genetics of Pituitary Adenoma Syndromes
Daly, Adrian; Beckers, Albert
2022In The Pituitary
Editorial reviewed
 

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Keywords :
AIP; Carney complex; FIPA; Genetics; Gigantism; GPR101; McCune-Albright syndrome; MEN1; Pituitary adenoma; Screening; X-LAG syndrome; Medicine (all)
Abstract :
[en] Pituitary adenomas are a heterogeneous group of tumors with distinctive secretory and growth characteristics, and the molecular pathophysiology of most sporadic adenomas remains unclear. Approximately 5% of pituitary adenomas occur in the setting of an inherited or familial condition, and these may exhibit more aggressive characteristics. Pituitary adenomas can occur as part of syndromic neoplasia disorders, such as multiple endocrine neoplasia type 1, and Carney complex. The most frequent familial clinical presentation of pituitary adenomas is as familial isolated pituitary adenomas, of which about 20% are caused by mutations of the aryl hydrocarbon-receptor interacting protein (AIP) gene. Genetic forms of pituitary adenomas account for an important proportion of pituitary adenomas that occur in children and adolescents, and nearly 50% of pituitary gigantism patients have an identifiable genetic cause, including AIP, X-linked acrogigantism, and McCune-Albright syndrome. Knowledge of the clinical features of genetically determined pituitary adenomas can help guide genetic testing strategies and optimize the diagnosis and follow-up of mutation carriers.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Daly, Adrian  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service d'endocrinologie clinique
Beckers, Albert ;  Centre Hospitalier Universitaire de Liège - CHU > > Service d'endocrinologie clinique
Language :
English
Title :
Genetics of Pituitary Adenoma Syndromes
Publication date :
2022
Main work title :
The Pituitary
Publisher :
Elsevier
ISBN/EAN :
978-0-323-99899-4
978-0-323-98533-8
Peer reviewed :
Editorial reviewed
Available on ORBi :
since 11 May 2023

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